Clinical and molecular dilemmas in the diagnosis of familial epidermolysis bullosa pruriginosa

Dystrophic epidermolysis bullosa is a rare and clinically heterogenous mechanobullous disorder. One unusual clinical variant is epidermolysis bullosa pruriginosa (EBP), in which the combination of pruritus and skin fragility can lead to hypertrophic, lichenfied nodules and plaques. This form of inherited epidermolysis bullosa may not develop clinically until adult life, leading planus, hypertrophic scarring, or dermatitis artefacta. As in all other forms of dystrophic epidermolysis bullosa, the molecular pathology involves mutations in the gene encoding the anchoring fibril protein , type VII collagen (COL7A1), but there is no clear genotype-phenotype correlation in EBP. In this report, we describe a Chinease-Singaporean family with EBP in whom an autosomal dominant glycine substitution mutation, p.G2251E, was identified in exon 86 of the COL7A1 gene. This heterozygous mutation was identified in the genomic DNA of all 4 affected adults tested, as well as 2 clinically unaffected offspring (aged 9-29 years). based on DNA sequencing, we predict that these individuals may develop EBP later in life, although plan to closely monitor these potentially presymptomatic individuals for symptoms of pruritus and early signs of the genetic disorder.